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Congenital
Adrenal Hyperplasia (CAH) Fact Sheet
Primary Defect
Deficiency of the enzyme 21-hydroxylase in the biochemical pathway that
normally produces cortisol in the adrenal glands
Screening Test
Fluoroimmunoassay measurement of the precursor steroid
17-hydroxyprogesterone (17-OHP)
Etiology & Prevalence
Genetic (autosomal recessive)
About
one in every 16,000 babies in Washington State is born with CAH.
If Untreated
-Salt loss leading to electrolyte imbalance resulting in possible death
-Accelerated growth resulting in ultimate stature
-Excessive masculinization premature sexual maturation
Therapy
-Hydrocortisone & mineralcorticoids
-Surgical corrections for masculinized females
With Treatment
Normal development, growth and sexual maturation
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